SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Dense body defect

Synonyms

Storage pool deficiency

Dense body defect (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/234474009

Active

1

altLabel

Storage pool deficiency

Dense body defect (disorder)

CASE SIGNIFICANCE ID

900000000000448009

CTV3ID

X20Ew

cui

C0032197

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/91689009

Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/263654008

interprets

http://purl.bioontology.org/ontology/SNOMEDCT/74848003

notation

234474009

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Dense body defect

Subset member

6011000124106~MAPADVICE~IF WISKOTT-ALDRICH AUTOSOMAL DOMINANT VARIANT SYNDROME CHOOSE D82.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPRULE~TRUE

6011000124106~MAPTARGET~K05.30

6011000124106~MAPRULE~IFA 111396008 | Ch?diak-Higashi syndrome (disorder) |

6011000124106~MAPRULE~IFA 9311003 | Hermansky-Pudlak syndrome (disorder) |

6011000124106~MAPADVICE~IF CH?DIAK-HIGASHI SYNDROME CHOOSE E70.330 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPADVICE~IF FAMILIAL PLATELET SYNDROME WITH PREDISPOSITION TO ACUTE MYELOGENOUS LEUKEMIA CHOOSE Z15.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH CHÉDIAK-HIGASHI SYNDROME CHOOSE K05.30 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPRULE~IFA 709465004 | Periodontitis co-occurrent with Chédiak-Higashi syndrome |

6011000124106~MAPADVICE~IF ATTENUATED CHÉDIAK-HIGASHI SYNDROME CHOOSE E70.330 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 725034002 | Familial platelet syndrome with predisposition to acute myelogenous leukemia |

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPADVICE~ALWAYS D69.1

6011000124106~MAPRULE~IFA 709465004 | Periodontitis co-occurrent with Ch?diak-Higashi syndrome (disorder) |

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF CHÉDIAK-HIGASHI SYNDROME CHOOSE E70.330 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~D69.1

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 111396008 | Chédiak-Higashi syndrome |

6011000124106~MAPRULE~IFA 36070007 | Wiskott-Aldrich syndrome |

6011000124106~MAPRULE~IFA 9311003 | Hermansky-Pudlak syndrome |

6011000124106~MAPADVICE~IF FAMILIAL PLATELET SYNDROME WITH PREDISPOSITION TO ACUTE MYELOGENOUS LEUKEMIA CHOOSE D69.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~E70.330

447562003~MAPPRIORITY~1

6011000124106~MAPADVICE~IF HERMANSKY-PUDLAK SYNDROME CHOOSE E70.331 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPRULE~IFA 403837005 | Wiskott-Aldrich autosomal dominant variant syndrome |

6011000124106~MAPTARGET~Z15.89

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPTARGET~D82.0

900000000000497000~MAPTARGET~X20Ew

6011000124106~MAPADVICE~IF WISKOTT-ALDRICH SYNDROME CHOOSE D82.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 36070007 | Wiskott-Aldrich syndrome (disorder) |

6011000124106~MAPPRIORITY~1

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~IFA 720520009 | Attenuated Chédiak-Higashi syndrome |

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPTARGET~E70.331

6011000124106~MAPTARGET~D69.1

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH CH?DIAK-HIGASHI SYNDROME CHOOSE K05.30 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH CHÉDIAK-HIGASHI SYNDROME CHOOSE E70.330 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~ALWAYS D69.1

6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH CH?DIAK-HIGASHI SYNDROME CHOOSE E70.330 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/128099001

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